By: Engracia S. Arceo, MPH, RMT
Newborn screening test is gaining popularity in many countries worldwide. It is a process of testing newborns for treatable genetic and diseases of the endocrine glands that may otherwise be irreversible if diagnosis is delayed. The list of screened diseases varies from one country to another depending on the susceptibility and its frequency in the population and the presence of reliable tests.
Why is it important?
Newborn screening detects abnormalities in the newborn that are not apparent at birth. Many are metabolic disorders that hinder the normal development of the infant. With simple blood tests, doctors can tell whether the child has the disorders. With early diagnosis, the prognosis is excellent and with proper treatment, the baby is spared from possible lifelong impairment and can enjoy a normal life.
When was the first test done?
The earliest test for newborns occurred in the early 1960’s when Robert Guthrie, a scientist, developed a blood test to determine the metabolic disorder, Phenylketonuria (PKU). Infants with the disorder lack the necessary enzyme to convert the amino acid, phenylalanine. The buildup of phenylalanine causes brain tissue damage and eventually leads to developmental delay. From the development of the PKU blood test, other scientists started to develop other tests to detect disorders.
Is it mandatory?
The Newborn screening test is mandated in most parts of the United States. Although the number of disorders tested varies from one state to another. In other parts of Europe and Asia, there are existing laws that support the testing.
What are the disorders tested?
Some of the most common metabolic disorders tested during the newborn screening test are congenital adrenal hyperplasia, congenital hypothyroidism, galactosemia, phenylketonuria, sickle cell disease, tyrosinemia, homocystinuria, cystic fibrosis and congenital deafness. Again, the coverage of the program varies depending on the availability of the test in the country and the susceptibility of the population.
How is the test done?
The test requires only two to three drops of blood obtained from the heel of the infant. The blood collection should be on the second or third day of life when protein has already been introduced and the level of maternal Thyroid Stimulating Hormone has subsided in the blood of the newborn. After collection, the filter paper with the blood should bear the name of the infant and the parents, the doctor and the hospital. The hospital then brings the specimen at the central laboratory for processing.
What happens after the collection?
After the collection, the authorized laboratory performs the newborn screening. If the results are negative, they release the result at once. However, for positive results, the laboratory informs the doctor and parents and a confirmatory test is requested. If the result is a true positive, the baby is referred to a specialist for the treatment to commence. With proper treatment, many of the ill effects of the metabolic disorder are prevented.
Are there controversies involved?
Some of the issues concerning the newborn screening test include the cost of the procedure. Many parents especially those who cannot afford the test and in countries where it is not given for free are hesitant to get the test done. Other ethical concerns include the mass storage of blood samples and their use in genetic testing without appropriate consent from the parents.
Here is a video from YouTube explaining the importance of Newborn Screening.